期刊
CELLS
卷 9, 期 7, 页码 -出版社
MDPI
DOI: 10.3390/cells9071678
关键词
MRE11-RAD50-NBS1; DNA double-strand break repair; ATLD; NBS; cancer mutations
类别
资金
- Cancer Prevention and Research Institute of Texas (CPRIT) [RP180553]
- National Institute of General Medical Sciences (NIGMS) [1R35GM128906]
The MRE11-RAD50-NBS1 (MRN) protein complex is one of the primary vehicles for repairing DNA double strand breaks and maintaining the genomic stability within the cell. The role of the MRN complex to recognize and process DNA double-strand breaks as well as signal other damage response factors is critical for maintaining proper cellular function. Mutations in any one of the components of the MRN complex that effect function or expression of the repair machinery could be detrimental to the cell and may initiate and/or propagate disease. Here, we discuss, in a structural and biochemical context, mutations in each of the three MRN components that have been associated with diseases such as ataxia telangiectasia-like disorder (ATLD), Nijmegen breakage syndrome (NBS), NBS-like disorder (NBSLD) and certain types of cancers. Overall, deepening our understanding of disease-causing mutations of the MRN complex at the structural and biochemical level is foundational to the future aim of treating diseases associated with these aberrations.
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